Incidental Mutation 'IGL03220:Smc4'
| ID |
413609 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Smc4
|
| Ensembl Gene |
ENSMUSG00000034349 |
| Gene Name |
structural maintenance of chromosomes 4 |
| Synonyms |
Smc4l1, 2500002A22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
IGL03220
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
68912071-68941956 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 68916875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 163
(Y163F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103433
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042901]
[ENSMUST00000107803]
[ENSMUST00000107812]
[ENSMUST00000136502]
[ENSMUST00000195525]
[ENSMUST00000148385]
[ENSMUST00000169064]
|
| AlphaFold |
Q8CG47 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042901
AA Change: Y188F
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000047872
Gene: ENSMUSG00000034349
AA Change: Y188F
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1W1W|D
|
89 |
238 |
1e-17 |
PDB |
|
Blast:AAA
|
104 |
238 |
3e-6 |
BLAST |
|
low complexity region
|
408 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
447 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
545 |
567 |
N/A |
INTRINSIC |
|
SMC_hinge
|
611 |
726 |
1.12e-31 |
SMART |
|
low complexity region
|
870 |
881 |
N/A |
INTRINSIC |
|
low complexity region
|
942 |
953 |
N/A |
INTRINSIC |
|
Blast:AAA
|
1102 |
1276 |
5e-26 |
BLAST |
|
PDB:3KTA|D
|
1125 |
1276 |
3e-30 |
PDB |
|
SCOP:d1e69a_
|
1188 |
1263 |
3e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083646
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083672
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107803
AA Change: Y163F
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000103433
Gene: ENSMUSG00000034349
AA Change: Y163F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_23
|
59 |
329 |
1.3e-12 |
PFAM |
|
Pfam:AAA_21
|
81 |
199 |
5.2e-7 |
PFAM |
|
coiled coil region
|
369 |
482 |
N/A |
INTRINSIC |
|
coiled coil region
|
511 |
563 |
N/A |
INTRINSIC |
|
SMC_hinge
|
586 |
701 |
8.6e-36 |
SMART |
|
Pfam:SMC_N
|
738 |
1247 |
1.1e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107812
|
| SMART Domains |
Protein: ENSMUSP00000103442
Gene: ENSMUSG00000027778
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
41 |
1.43e0 |
SMART |
|
Blast:WD40
|
46 |
93 |
4e-9 |
BLAST |
|
WD40
|
95 |
134 |
9.38e-5 |
SMART |
|
WD40
|
136 |
176 |
2.75e1 |
SMART |
|
WD40
|
177 |
216 |
1.42e-4 |
SMART |
|
WD40
|
219 |
256 |
1.56e-1 |
SMART |
|
WD40
|
258 |
297 |
2.75e1 |
SMART |
|
low complexity region
|
429 |
440 |
N/A |
INTRINSIC |
|
Blast:WD40
|
496 |
533 |
4e-18 |
BLAST |
|
low complexity region
|
764 |
772 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136448
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136502
AA Change: Y188F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000115033
Gene: ENSMUSG00000034349
AA Change: Y188F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SMC_N
|
81 |
303 |
1.2e-42 |
PFAM |
|
Pfam:AAA_23
|
84 |
336 |
2.6e-16 |
PFAM |
|
Pfam:AAA_21
|
106 |
227 |
1e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195525
AA Change: T48S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148385
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169064
|
| SMART Domains |
Protein: ENSMUSP00000133263
Gene: ENSMUSG00000027778
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
41 |
1.43e0 |
SMART |
|
Blast:WD40
|
46 |
93 |
4e-9 |
BLAST |
|
WD40
|
95 |
134 |
9.38e-5 |
SMART |
|
WD40
|
136 |
176 |
2.75e1 |
SMART |
|
WD40
|
177 |
216 |
1.42e-4 |
SMART |
|
WD40
|
219 |
256 |
1.56e-1 |
SMART |
|
WD40
|
258 |
297 |
2.75e1 |
SMART |
|
low complexity region
|
429 |
440 |
N/A |
INTRINSIC |
|
Blast:WD40
|
496 |
533 |
4e-18 |
BLAST |
|
low complexity region
|
764 |
772 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the 'structural maintenance of chromosomes' (SMC) gene family. Members of this gene family play a role in two changes in chromosome structure during mitotic segregation of chromosomes- chromosome condensation and sister chromatid cohesion. The protein encoded by this gene is likely a subunit of the 13S condensin complex, which is involved in chromosome condensation. A pseudogene related to this gene is located on chromosome 2. [provided by RefSeq, Jun 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
T |
A |
1: 179,615,767 (GRCm39) |
E368D |
probably benign |
Het |
| Arid2 |
A |
T |
15: 96,259,653 (GRCm39) |
H271L |
probably damaging |
Het |
| Bsnd |
G |
T |
4: 106,343,962 (GRCm39) |
Q115K |
possibly damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,494,653 (GRCm39) |
I887N |
probably damaging |
Het |
| Clrn2 |
T |
C |
5: 45,621,070 (GRCm39) |
F155L |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,606,765 (GRCm39) |
S553P |
probably damaging |
Het |
| Crnn |
C |
T |
3: 93,056,674 (GRCm39) |
H487Y |
possibly damaging |
Het |
| Ddi2 |
T |
C |
4: 141,435,767 (GRCm39) |
N90S |
probably benign |
Het |
| Deup1 |
T |
A |
9: 15,503,707 (GRCm39) |
I285L |
probably benign |
Het |
| Dlgap4 |
T |
C |
2: 156,546,546 (GRCm39) |
S405P |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,069,720 (GRCm39) |
F1560L |
probably benign |
Het |
| Dock1 |
T |
C |
7: 134,710,251 (GRCm39) |
|
probably null |
Het |
| Dst |
C |
A |
1: 34,225,076 (GRCm39) |
Q1161K |
probably damaging |
Het |
| Dus1l |
G |
T |
11: 120,683,185 (GRCm39) |
H280N |
probably damaging |
Het |
| Gm21985 |
C |
A |
2: 112,187,829 (GRCm39) |
H964N |
possibly damaging |
Het |
| Gzmd |
A |
T |
14: 56,367,886 (GRCm39) |
V129E |
probably damaging |
Het |
| Hmcn2 |
T |
A |
2: 31,236,633 (GRCm39) |
F392Y |
possibly damaging |
Het |
| Kdelr2 |
T |
A |
5: 143,403,870 (GRCm39) |
Y86* |
probably null |
Het |
| Kif26b |
T |
G |
1: 178,692,434 (GRCm39) |
C458W |
probably damaging |
Het |
| Lhpp |
G |
A |
7: 132,252,020 (GRCm39) |
V220I |
probably benign |
Het |
| Nfya |
T |
C |
17: 48,707,521 (GRCm39) |
N7S |
possibly damaging |
Het |
| Or5ar1 |
G |
T |
2: 85,671,326 (GRCm39) |
Q270K |
possibly damaging |
Het |
| Or5b12b |
C |
T |
19: 12,861,815 (GRCm39) |
T190I |
possibly damaging |
Het |
| Or5b24 |
A |
C |
19: 12,912,858 (GRCm39) |
Y252S |
probably damaging |
Het |
| Prkg1 |
A |
T |
19: 30,546,637 (GRCm39) |
|
probably benign |
Het |
| Prpf6 |
A |
G |
2: 181,274,672 (GRCm39) |
E383G |
probably damaging |
Het |
| Ptpn21 |
A |
T |
12: 98,644,882 (GRCm39) |
V1153E |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,759,280 (GRCm39) |
I3330N |
probably damaging |
Het |
| Sgk1 |
A |
G |
10: 21,873,290 (GRCm39) |
D252G |
probably null |
Het |
| Shcbp1l |
T |
C |
1: 153,308,911 (GRCm39) |
|
probably benign |
Het |
| Shoc1 |
G |
A |
4: 59,082,378 (GRCm39) |
Q417* |
probably null |
Het |
| Skida1 |
T |
C |
2: 18,052,972 (GRCm39) |
D60G |
probably damaging |
Het |
| Slc9a5 |
T |
A |
8: 106,094,652 (GRCm39) |
C748S |
probably benign |
Het |
| Spdya |
T |
C |
17: 71,885,286 (GRCm39) |
S247P |
possibly damaging |
Het |
| Sptb |
T |
C |
12: 76,659,684 (GRCm39) |
D1072G |
probably benign |
Het |
| St7l |
A |
T |
3: 104,782,139 (GRCm39) |
|
probably benign |
Het |
| Trmt1l |
T |
C |
1: 151,316,692 (GRCm39) |
|
probably benign |
Het |
| Tspan4 |
A |
G |
7: 141,071,712 (GRCm39) |
Y153C |
probably damaging |
Het |
| Ulk4 |
A |
T |
9: 120,974,402 (GRCm39) |
N944K |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,544,097 (GRCm39) |
C407R |
probably damaging |
Het |
| Zfp563 |
T |
G |
17: 33,323,661 (GRCm39) |
S85R |
probably benign |
Het |
| Zp2 |
A |
C |
7: 119,736,450 (GRCm39) |
L331R |
possibly damaging |
Het |
|
| Other mutations in Smc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00401:Smc4
|
APN |
3 |
68,937,712 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00542:Smc4
|
APN |
3 |
68,935,771 (GRCm39) |
splice site |
probably benign |
|
|
IGL01104:Smc4
|
APN |
3 |
68,934,917 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01380:Smc4
|
APN |
3 |
68,933,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01397:Smc4
|
APN |
3 |
68,938,877 (GRCm39) |
missense |
probably benign |
|
|
IGL02441:Smc4
|
APN |
3 |
68,913,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02629:Smc4
|
APN |
3 |
68,933,206 (GRCm39) |
missense |
probably damaging |
0.96 |
|
pyrrhic
|
UTSW |
3 |
68,934,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0452:Smc4
|
UTSW |
3 |
68,915,361 (GRCm39) |
nonsense |
probably null |
|
|
R0523:Smc4
|
UTSW |
3 |
68,933,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0568:Smc4
|
UTSW |
3 |
68,929,794 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0571:Smc4
|
UTSW |
3 |
68,931,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0602:Smc4
|
UTSW |
3 |
68,916,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0925:Smc4
|
UTSW |
3 |
68,913,548 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R0963:Smc4
|
UTSW |
3 |
68,933,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1540:Smc4
|
UTSW |
3 |
68,924,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1755:Smc4
|
UTSW |
3 |
68,941,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1920:Smc4
|
UTSW |
3 |
68,940,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4226:Smc4
|
UTSW |
3 |
68,938,800 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4510:Smc4
|
UTSW |
3 |
68,923,980 (GRCm39) |
splice site |
probably null |
|
|
R4511:Smc4
|
UTSW |
3 |
68,923,980 (GRCm39) |
splice site |
probably null |
|
|
R4899:Smc4
|
UTSW |
3 |
68,939,144 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4967:Smc4
|
UTSW |
3 |
68,925,572 (GRCm39) |
intron |
probably benign |
|
|
R5096:Smc4
|
UTSW |
3 |
68,928,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5101:Smc4
|
UTSW |
3 |
68,935,845 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5588:Smc4
|
UTSW |
3 |
68,933,190 (GRCm39) |
missense |
probably benign |
|
|
R5631:Smc4
|
UTSW |
3 |
68,937,645 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5633:Smc4
|
UTSW |
3 |
68,915,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6229:Smc4
|
UTSW |
3 |
68,937,580 (GRCm39) |
nonsense |
probably null |
|
|
R6300:Smc4
|
UTSW |
3 |
68,935,224 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6554:Smc4
|
UTSW |
3 |
68,936,848 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6596:Smc4
|
UTSW |
3 |
68,933,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6603:Smc4
|
UTSW |
3 |
68,929,794 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6682:Smc4
|
UTSW |
3 |
68,914,574 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6727:Smc4
|
UTSW |
3 |
68,924,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6955:Smc4
|
UTSW |
3 |
68,931,642 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7037:Smc4
|
UTSW |
3 |
68,925,528 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7051:Smc4
|
UTSW |
3 |
68,934,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7454:Smc4
|
UTSW |
3 |
68,925,457 (GRCm39) |
missense |
probably benign |
|
|
R7630:Smc4
|
UTSW |
3 |
68,925,400 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R7632:Smc4
|
UTSW |
3 |
68,925,400 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R7633:Smc4
|
UTSW |
3 |
68,925,400 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R7773:Smc4
|
UTSW |
3 |
68,923,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7857:Smc4
|
UTSW |
3 |
68,940,552 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8008:Smc4
|
UTSW |
3 |
68,914,645 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8398:Smc4
|
UTSW |
3 |
68,933,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8527:Smc4
|
UTSW |
3 |
68,940,224 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8936:Smc4
|
UTSW |
3 |
68,925,491 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8998:Smc4
|
UTSW |
3 |
68,934,894 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9267:Smc4
|
UTSW |
3 |
68,941,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9440:Smc4
|
UTSW |
3 |
68,915,455 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9476:Smc4
|
UTSW |
3 |
68,914,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9510:Smc4
|
UTSW |
3 |
68,914,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9777:Smc4
|
UTSW |
3 |
68,929,655 (GRCm39) |
nonsense |
probably null |
|
|
X0063:Smc4
|
UTSW |
3 |
68,925,436 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
| Posted On |
2016-08-02 |
Incidental Mutation